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FLASH GENE
Symbol ARCN1 contributors: mct - updated : 19-09-2016
HGNC name archain 1
HGNC id 649
Corresponding disease
MGMD micrognathia, short stature, microcephalic dwarfism
Location 11q23.3      Physical location : 118.443.101 - 118.473.745
Synonym name
  • archain vesicle transport protein 1
  • coatomer protein complex, subunit delta
  • delta-coat protein
  • coatomer protein delta-COP
  • Synonym symbol(s) COPD
    DNA
    TYPE functioning gene
    STRUCTURE 30.65 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 4032 57.2 511 - 2012 23300798
    9 - 3768 - 423 - 2012 23300798
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a MHD (mu homology) domain
  • HOMOLOGY
    interspecies homolog to DNA sequences from Drosophila and murine
    Homologene
    FAMILY
  • adaptor complexes medium subunit family
  • delta-COP subfamily
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text co-localized with Golgi and ER (Xu 2010)
    basic FUNCTION
  • may be involved in vesicle structure or trafficking
  • delta subunit of the coat protein I (COPI) complex required for intracellular trafficking (Xu 2010)
  • involved in ER–Golgi and/or intra-Golgi trafficking in melanocytes (Xu 2010)
  • encodes the coatomer subunit delta of COPI
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to dilysine motifs and reversibly associates with golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the golgi up to the trans golgi network
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MGMD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    causes diluted coat color and Purkinje cell degeneration
    Susceptibility to glioma
    Variant & Polymorphism other
  • locus within the ARCN1 gene, associated with a significantly reduced risk for glioma
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutation in Arcn1 is responsible for the phenotypes in an ENU-induced mouse mutant, nur17, identified by screening for mice with both diluted coat color and ataxia (Xu 2010)